{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825037995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 346,
          "referenceAllele": "P",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_000044.2:p.Pro346Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6989451",
          "hgvs": "NM_000053.4:c.1036C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1930805[alleleid]",
        "alleleId": 1930805,
        "preferredName": "NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2200370",
        "RCV": [
          "RCV002644111",
          "RCV003481404"
        ],
        "variationId": 2200370
      }
    ]
  },
  "type": "amino-acid"
}